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Gene | CDKN2A |
Variant | L94P |
Impact List | missense |
Protein Effect | loss of function - predicted |
Gene Variant Descriptions | CDKN2A L94P lies within ANK repeat 3 of the Cdkn2a protein (UniProt.org). L94P results in a loss of growth inhibition compared to wild-type Cdkn2a in culture (PMID: 24659262), and therefore, is predicted to lead to a loss of Cdkn2a protein function. |
Associated Drug Resistance | |
Category Variants Paths |
CDKN2A mutant CDKN2A inact mut CDKN2A L94P |
Transcript | NM_000077.5 |
gDNA | chr9:g.21971078A>G |
cDNA | c.281T>C |
Protein | p.L94P |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_001195132.2 | chr9:g.21971078A>G | c.281T>C | p.L94P | RefSeq | GRCh38/hg38 |
XM_011517675.3 | chr9:g.21971078A>G | c.281T>C | p.L94P | RefSeq | GRCh38/hg38 |
XM_011517675.2 | chr9:g.21971078A>G | c.281T>C | p.L94P | RefSeq | GRCh38/hg38 |
XM_011517676 | chr9:g.21971078A>G | c.281T>C | p.L94P | RefSeq | GRCh38/hg38 |
XM_011517676.3 | chr9:g.21971078A>G | c.281T>C | p.L94P | RefSeq | GRCh38/hg38 |
XM_011517675 | chr9:g.21971078A>G | c.281T>C | p.L94P | RefSeq | GRCh38/hg38 |
NM_000077.4 | chr9:g.21971078A>G | c.281T>C | p.L94P | RefSeq | GRCh38/hg38 |
NM_001195132 | chr9:g.21971078A>G | c.281T>C | p.L94P | RefSeq | GRCh38/hg38 |
NM_001195132.1 | chr9:g.21971078A>G | c.281T>C | p.L94P | RefSeq | GRCh38/hg38 |
NM_000077.5 | chr9:g.21971078A>G | c.281T>C | p.L94P | RefSeq | GRCh38/hg38 |
XM_011517676.2 | chr9:g.21971078A>G | c.281T>C | p.L94P | RefSeq | GRCh38/hg38 |
NM_000077 | chr9:g.21971078A>G | c.281T>C | p.L94P | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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